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Genes Aug 2023Complex interactions between gene variants and environmental risk factors underlie the pathophysiological pathways in major psychiatric disorders. Autism Spectrum... (Review)
Review
Complex interactions between gene variants and environmental risk factors underlie the pathophysiological pathways in major psychiatric disorders. Autism Spectrum Disorder is a neuropsychiatric condition in which susceptible alleles along with epigenetic states contribute to the mutational landscape of the ailing brain. The present work reviews recent evolutionary, molecular, and epigenetic mechanisms potentially linked to the etiology of autism. First, we present a clinical vignette to describe clusters of maladaptive behaviors frequently diagnosed in autistic patients. Next, we microdissect brain regions pertinent to the nosology of autism, as well as cell networks from the bilateral body plan. Lastly, we catalog a number of pathogenic environments associated with disease risk factors. This set of perspectives provides emerging insights into the dynamic interplay between epigenetic and environmental variation in the development of Autism Spectrum Disorders.
Topics: Humans; Autism Spectrum Disorder; Autistic Disorder; Alleles; Biological Evolution; Epigenesis, Genetic
PubMed: 37761876
DOI: 10.3390/genes14091734 -
Brain and Behavior Nov 2023Patients with autism spectrum disorder (ASD) commonly experience aberrant skin sensation sensitivity; however, the causal relationship is not yet clear. This study uses...
BACKGROUND AND AIM
Patients with autism spectrum disorder (ASD) commonly experience aberrant skin sensation sensitivity; however, the causal relationship is not yet clear. This study uses a bidirectional Mendelian randomization (MR) method to explore the relationship between disturbance of skin sensation (DSS) and ASD.
METHODS
Single-nucleotide polymorphisms (SNPs) extracted from the summary data of genome-wide association studies were used as genetic instruments. MR was performed using the inverse-variance-weighted method, with alternate methods (e.g., weighted median, MR-Egger, simple mode, weighted mode, and MR-pleiotropy residual sum and outlier) and multiple sensitivity analyses to assess horizontal pleiotropy and remove outliers.
RESULTS
The results of the analysis using six SNPs as genetic instruments showed that the DSS is associated with an increased risk of ASD (odds ratio = 1.126, 95% confidence interval = 1.029-1.132; p = .010). The results of the sensitivity analyses were robust with no evidence of pleiotropy. The reverse MR analyses showed no causal effects of ASD on DSS.
CONCLUSION
This study's findings suggest that DSS has potential causal effects on ASD, whereas ASD has no effect on DSS. Thus, skin sensitivity may represent a behavioral marker of ASD, by which some populations could be subtyped in the future.
Topics: Humans; Autism Spectrum Disorder; Genome-Wide Association Study; Mendelian Randomization Analysis; Skin; Sensation
PubMed: 37670485
DOI: 10.1002/brb3.3238 -
Research in Developmental Disabilities Aug 2023Studies focusing on math abilities in autism spectrum disorder (ASD) are limited and often provide inconsistent results. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Studies focusing on math abilities in autism spectrum disorder (ASD) are limited and often provide inconsistent results.
AIM
This meta-analysis was conducted to investigate math abilities in people with autism spectrum disorder (ASD) compared to typically developing (TD) participants.
METHODS AND PROCEDURES
According with PRISMA guidelines, a systematic search strategy was adopted. First, 4405 records were identified through database searching; then, the title-abstract screening led to the identification of 58 potentially relevant studies and, finally, after the full-text screening, 13 studies were included.
OUTCOMES AND RESULTS
Results shows that the group with ASD (n = 533) performed lower than the TD group (n = 525) with a small-to-medium effect (g=0.49). The effect size was not moderated by task-related characteristics. Instead, sample-related characteristics, specifically age, verbal intellectual functioning, and working memory, were significant moderators.
CONCLUSIONS AND IMPLICATIONS
This meta-analysis shows that people with ASD have poorer math skills than their TD peers, suggesting the importance of investigating math abilities in autism, taking into account the role of moderating variables.
Topics: Humans; Autism Spectrum Disorder; Cognition; Memory, Short-Term; Autistic Disorder; Mathematics
PubMed: 37329855
DOI: 10.1016/j.ridd.2023.104559 -
International Journal of Environmental... Feb 2024Autism Spectrum Disorder (ASD) belongs to the group of neurodevelopmental disorders, and has a high prevalence, affecting 1 in 100 children according to data from the... (Review)
Review
Autism Spectrum Disorder (ASD) belongs to the group of neurodevelopmental disorders, and has a high prevalence, affecting 1 in 100 children according to data from the World Health Organization (WHO). To be diagnosed with ASD, the child must have persistent deficits in communication and social interactions, and restricted and repetitive patterns of behavior, interests, or activities. Despite its prevalence, the etiology of ASD is still uncertain, with multifactorial characteristics, including those associated with the gestational period, where maternal exposure to biological, chemical, or physical hazards occurs, some of which have already been proposed as causes of ASD outcomes. Since pregnancy requires a balance between the maternal-fetal binomial, the breakdown of this balance caused by such environmental hazards can lead to altered fetal neurodevelopment, including ASD. With this firmly in mind, this review aims to compile the most recent data on the gestational causes that may be associated with the development of ASD to help health professionals identify risk factors and act for the prevention and management of ASD.
Topics: Child; Pregnancy; Female; Humans; Autism Spectrum Disorder; Risk Factors; Maternal Exposure; Causality; Neurodevelopmental Disorders
PubMed: 38541246
DOI: 10.3390/ijerph21030244 -
Environment International Sep 2023Autism Spectrum Disorder (ASD) risk is highly heritable, with potential additional non-genetic factors, such as prenatal exposure to ambient particulate matter with...
BACKGROUND
Autism Spectrum Disorder (ASD) risk is highly heritable, with potential additional non-genetic factors, such as prenatal exposure to ambient particulate matter with aerodynamic diameter < 2.5 µm (PM) and maternal immune activation (MIA) conditions. Because these exposures may share common biological effect pathways, we hypothesized that synergistic associations of prenatal air pollution and MIA-related conditions would increase ASD risk in children.
OBJECTIVES
This study examined interactions between MIA-related conditions and prenatal PM or major PM components on ASD risk.
METHODS
In a population-based pregnancy cohort of children born between 2001 and 2014 in Southern California, 318,751 mother-child pairs were followed through electronic medical records (EMR); 4,559 children were diagnosed with ASD before age 5. Four broad categories of MIA-related conditions were classified, including infection, hypertension, maternal asthma, and autoimmune conditions. Average exposures to PM and four PM components, black carbon (BC), organic matter (OM), nitrate (NO), and sulfate (SO), were estimated at maternal residential addresses during pregnancy. We estimated the ASD risk associated with MIA-related conditions, air pollution, and their interactions, using Cox regression models to adjust for covariates.
RESULTS
ASD risk was associated with MIA-related conditions [infection (hazard ratio 1.11; 95% confidence interval 1.05-1.18), hypertension (1.30; 1.19-1.42), maternal asthma (1.22; 1.08-1.38), autoimmune disease (1.19; 1.09-1.30)], with higher pregnancy PM [1.07; 1.03-1.12 per interquartile (3.73 μg/m) increase] and with all four PM components. However, there were no interactions of each category of MIA-related conditions with PM or its components on either multiplicative or additive scales.
CONCLUSIONS
MIA-related conditions and pregnancy PM were independently associations with ASD risk. There were no statistically significant interactions of MIA conditions and prenatal PM exposure with ASD risk.
Topics: Female; Pregnancy; Humans; Child, Preschool; Autism Spectrum Disorder; Vitamins; Air Pollution; Asthma; Hypertension
PubMed: 37595536
DOI: 10.1016/j.envint.2023.108148 -
Nutrients Feb 2024Autism spectrum disorder (ASD) is a neuropsychiatric condition characterized by impaired social interactions and repetitive stereotyped behaviors. Growing evidence... (Review)
Review
Autism spectrum disorder (ASD) is a neuropsychiatric condition characterized by impaired social interactions and repetitive stereotyped behaviors. Growing evidence highlights an important role of the gut-brain-microbiome axis in the pathogenesis of ASD. Research indicates an abnormal composition of the gut microbiome and the potential involvement of bacterial molecules in neuroinflammation and brain development disruptions. Concurrently, attention is directed towards the role of short-chain fatty acids (SCFAs) and impaired intestinal tightness. This comprehensive review emphasizes the potential impact of maternal gut microbiota changes on the development of autism in children, especially considering maternal immune activation (MIA). The following paper evaluates the impact of the birth route on the colonization of the child with bacteria in the first weeks of life. Furthermore, it explores the role of pro-inflammatory cytokines, such as IL-6 and IL-17a and mother's obesity as potentially environmental factors of ASD. The purpose of this review is to advance our understanding of ASD pathogenesis, while also searching for the positive implications of the latest therapies, such as probiotics, prebiotics or fecal microbiota transplantation, targeting the gut microbiota and reducing inflammation. This review aims to provide valuable insights that could instruct future studies and treatments for individuals affected by ASD.
Topics: Child; Humans; Autism Spectrum Disorder; Autistic Disorder; Dysbiosis; Gastrointestinal Microbiome; Family; Bacteria
PubMed: 38398873
DOI: 10.3390/nu16040549 -
Medical Archives (Sarajevo, Bosnia and... 2024Attention-deficit hyperactivity disorder (ADHA) is one of the most common comorbid disorders of autism spectrum disorder (ASD) that can accompany autism, triggered by... (Review)
Review
BACKGROUND
Attention-deficit hyperactivity disorder (ADHA) is one of the most common comorbid disorders of autism spectrum disorder (ASD) that can accompany autism, triggered by it, or be a consequence of it.
OBJECTIVE
This review explored the prevalence of the comorbidity of both disorders, neurobiological background, symptoms, latest assessment methods, and therapeutic approaches. It concluded that effective assessment, diagnosis and management of ADHD in ASD children and adults is essential for this group of patients to thrive and live a good quality of life. Further research is recommended to explore the most effective intervention for such important members of our society.
CONCLUSION
More studies are needed to understand the mechanisms underlying these comorbidities, and to prevent the misdiagnosis and mismanagement of these disorders. Also, to develop up to date personalized therapeutic plans for such children.
Topics: Child; Adult; Humans; Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Quality of Life; Comorbidity; Prevalence
PubMed: 38566879
DOI: 10.5455/medarh.2024.78.159-163 -
Medicina (Kaunas, Lithuania) Aug 2023Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is... (Review)
Review
Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is thought to have a variety of causes when accompanied by genetic disorders and environmental variables together, resulting in abnormalities in the brain. A steep rise in ASD has been seen regardless of the numerous behavioral and pharmaceutical therapeutic techniques. Therefore, using complementary and alternative therapies to treat autism could be very significant. Thus, this review is completely focused on non-pharmacological therapeutic interventions which include different diets, supplements, antioxidants, hormones, vitamins and minerals to manage ASD. Additionally, we also focus on complementary and alternative medicine (CAM) therapies, herbal remedies, camel milk and cannabiodiol. Additionally, we concentrate on how palatable phytonutrients provide a fresh glimmer of hope in this situation. Moreover, in addition to phytochemicals/nutraceuticals, it also focuses on various microbiomes, i.e., gut, oral, and vaginal. Therefore, the current comprehensive review opens a new avenue for managing autistic patients through non-pharmacological intervention.
Topics: Female; Humans; Autism Spectrum Disorder; Autistic Disorder; Vitamins; Antioxidants; Brain
PubMed: 37763703
DOI: 10.3390/medicina59091584 -
International Journal of Molecular... Aug 2023Precision medicine is imminent, and metabolomics is one of the main actors on stage. We summarize and discuss the current literature on the clinical application of... (Review)
Review
Precision medicine is imminent, and metabolomics is one of the main actors on stage. We summarize and discuss the current literature on the clinical application of metabolomic techniques as a possible tool to improve early diagnosis of autism spectrum disorder (ASD), to define clinical phenotypes and to identify co-occurring medical conditions. A review of the current literature was carried out after PubMed, Medline and Google Scholar were consulted. A total of 37 articles published in the period 2010-2022 was included. Selected studies involve as a whole 2079 individuals diagnosed with ASD (1625 males, 394 females; mean age of 10, 9 years), 51 with other psychiatric comorbidities (developmental delays), 182 at-risk individuals (siblings, those with genetic conditions) and 1530 healthy controls (TD). Metabolomics, reflecting the interplay between genetics and environment, represents an innovative and promising technique to approach ASD. The metabotype may mirror the clinical heterogeneity of an autistic condition; several metabolites can be expressions of dysregulated metabolic pathways thus liable of leading to clinical profiles. However, the employment of metabolomic analyses in clinical practice is far from being introduced, which means there is a need for further studies for the full transition of metabolomics from clinical research to clinical diagnostic routine.
Topics: Female; Male; Humans; Autism Spectrum Disorder; Autistic Disorder; Employment; Metabolomics; Phenotype
PubMed: 37686207
DOI: 10.3390/ijms241713404 -
BMC Psychiatry Dec 2023The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can invade both the peripheral and central nervous systems and impact the function of the brain....
BACKGROUND
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can invade both the peripheral and central nervous systems and impact the function of the brain. Therefore, it is necessary to evaluate the mutual influences between COVID-19 outcomes and childhood mental disorders.
METHODS
We examined genetic correlations and potential causalities between three childhood mental disorders and three COVID-19 phenotypes by genetically proxied analyses. The three mental disorders included attention-deficit/hyperactivity disorder (ADHD, N = 292,548), Tourette's syndrome (TS, N = 14,307), and autism spectrum disorder (ASD, N = 46,350). The three COVID-19 traits included SARS-CoV-2 infection (N = 2,597,856), hospitalized COVID-19 (N = 2,095,324), and critical COVID-19 (N = 1,086,211). Literature-based analysis was used to build gene-based pathways connecting ADHD and COVID-19.
RESULTS
ADHD was positively correlated with the three COVID-19 outcomes (R: 0.22 ~ 0.30). Our Mendelian randomization (MR) analyses found that ADHD confers a causal effect on hospitalized COVID-19 (odds ratio (OR): 1.36, 95% confidence interval (CI): 1.10-1.69). TS confers a causal effect on critical COVID-19 (OR: 1.14, 95% CI: 1.04-1.25). Genetic liability to the COVID-19 outcomes may not increase the risk for the childhood mental disorders. Pathway analysis identified several immunity-related genes that may link ADHD to COVID-19, including CRP, OXT, IL6, PON1, AR, TNFSF12, and IL10.
CONCLUSIONS
Our study suggests that both ADHD and TS may augment the severity of COVID-19 through immunity-related pathways. However, our results did not support a causal role of COVID-19 in the risk for the childhood mental disorders.
Topics: Humans; Child; Autism Spectrum Disorder; COVID-19; SARS-CoV-2; Attention Deficit Disorder with Hyperactivity; Causality; Genome-Wide Association Study; Aryldialkylphosphatase
PubMed: 38066446
DOI: 10.1186/s12888-023-05433-0